Protein Name | CD59 molecule (CD59 blood group) |
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Organism | Homo sapiens |
Gene ID | 966 |
Gene Symbol | CD59 |
UniProt | P13987 (CD59_HUMAN), Q6FHM9 (Q6FHM9_HUMAN) |
Relationships |
Total Number of functionally related compound(s) :
1815
Total Number of Articles : 4156 |
Description |
CD59 molecule (CD59 blood group) |
Gene Summary |
This gene encodes a cell surface glycoprotein that regulates complement-mediated cell lysis, and it is involved in lymphocyte signal transduction. This protein is a potent inhibitor of the complement membrane attack complex, whereby it binds complement C8 and/or C9 during the assembly of this complex, thereby inhibiting the incorporation of multiple copies of C9 into the complex, which is necessary for osmolytic pore formation. This protein also plays a role in signal transduction pathways in the activation of T cells. Mutations in this gene cause CD59 deficiency, a disease resulting in hemolytic anemia and thrombosis, and which causes cerebral infarction. Multiple alternatively spliced transcript variants, which encode the same protein, have been identified for this gene. [provided by RefSeq, Jul 2008] |
synonyms |
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Properties | |